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Task B-001 · Type B — Disease → gene association
Which gene is associated with fibrodysplasia ossificans progressiva, and what is the nature of the pathogenic variant?
Difficulty
easy
Rarity stratum
sparse
Evidence type
primary_research + review
MONDO ID
MONDO:0007606
Curator notes
ACVR1 is also known as ALK2 in the literature (both terms appear across gold documents) — an entity-linking system must resolve both names to the same gene.
Generation outcome
Abstained
No
Abstention correct
Yes
Gold in retrieved
3.00
Generation cost
$0.000366
Claims
2
Supported
2
Contradicted
0
Unverifiable
0
Gold documents (4)
- Fibrodysplasia ossificans progressiva.
- Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis.
- Fibrodysplasia ossificans progressiva in a 3-year-old female patient.
- Compound KTI-2338 Inhibits ACVR1 Receptor Signaling in Fibrodysplasia Ossificans Progressiva.
Retrieved documents (6)
- Fibrodysplasia Ossificans Progressiva: A Report of Four Cases.pubmed:35475090
- Fibrodysplasia Ossificans Progressiva: A Case Report.pubmed:38576636
- Fibrodysplasia ossificans progressiva.pubmed:12804980
- Fibrodysplasia ossificans progressiva in a 3-year-old female patient.pubmed:36867574gold
- Compound KTI-2338 Inhibits ACVR1 Receptor Signaling in Fibrodysplasia Ossificans Progressiva.pubmed:41471105gold
- Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis.pubmed:34440363gold
Generated claims (2)
supportedconfidence 1.00
The gene associated with fibrodysplasia ossificans progressiva is ACVR1 (ALK2).
pubmed:41471105pubmed:34440363pubmed:36867574
supportedconfidence 1.00
The nature of the pathogenic variant is activating mutations that result in a constitutively overactive ALK2 receptor.
pubmed:41471105pubmed:34440363